Selfish selection of de novo mutations in the male germline

Grantholders

  • Prof Anne Goriely

    University of Oxford

Project summary

Genetic diseases happen when mistakes, known as mutations, arise in our DNA code. When these mistakes occur in the DNA of eggs or sperm, they can be transmitted to the next generation and cause disease in newborns. Because most mutations happen in the father during sperm production, studying how sperm is made and how DNA mistakes accumulate is important to understand genetic diseases.
 
We have previously shown that some mutations can be ‘selfish’. These selfish mutations hijack the way sperm is produced to their own advantage and become more abundant in sperm as men get older. So far we have only demonstrated this effect for rare disease mutations, but we think it may be more common than is currently recognised. We will use state-of-the-art technologies to identify new mutations that are caused by this selfish effect in order to understand why some diseases arise and how our DNA evolves.